Details of Disease | DrugMAP

General Information of Disease (ID: DIS1KOY0)

Disease Name	Syndactyly type 5
Synonyms	syndactyly, type V; syndactyly with metacarpal and metatarsal fusion; SDTY5; syndactyly, type 5; syndactyly with associated metacarpal and metatarsal fusion; SD5; postaxial syndactyly with metacarpal synostosis
Definition	Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.
Disease Hierarchy	DISFLSDF: Polydactyly-syndactyly-triphalangism DISDSSO2: Non-syndromic syndactyly DIS1KOY0: Syndactyly type 5
Disease Identifiers	MONDO ID MONDO_0008516 MESH ID C538155 UMLS CUI C1861348 OMIM ID 186300 MedGen ID 350010 Orphanet ID 93406 SNOMED CT ID 719159004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HOXD13	OTWSC8TF	Supportive	Autosomal dominant	[1]
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References

1	Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet. 2007 Feb;80(2):361-71. doi: 10.1086/511387. Epub 2007 Jan 3.